Variant report

Variant	nsv966088
Chromosome Location	chr22:23805122-23822357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:23804034..23806130-chr22:23807353..23810139,2	K562	blood:
2	chr22:23804034..23806130-chr22:23807353..23810139,2	K562	blood:
3	chr22:23811117..23813674-chr22:23862180..23864787,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-2	chr22:23815565-23815598	ENSG00000178248
2	lnc-IGLL1-2	chr22:23816064-23816125	ENSG00000178248
3	lnc-IGLL1-2	chr22:23812181-23812224	ENSG00000178248
4	lnc-IGLL1-2	chr22:23812995-23813350	ENSG00000178248
5	lnc-IGLL1-2	chr22:23812502-23812523	ENSG00000178248

No data

Extended variants
information (count: 746 )
Associated
traits (count: 214 )

Variant overlapped rSNPs/rCNVs (count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200375680	chr22:23805123-23805124	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116787760	chr22:23805124-23805125	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553291825	chr22:23805126-23805127	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566135745	chr22:23805127-23805128	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371368235	chr22:23805128-23805129	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17842461	chr22:23805130-23805131	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571659537	chr22:23805137-23805138	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537489164	chr22:23805144-23805145	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201273510	chr22:23805198-23805199	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573993882	chr22:23805234-23805235	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73389493	chr22:23805238-23805239	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528860991	chr22:23805347-23805348	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552915092	chr22:23805376-23805377	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142012682	chr22:23805392-23805393	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150563318	chr22:23805439-23805440	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565035908	chr22:23805474-23805475	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543904940	chr22:23805559-23805560	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139547800	chr22:23805570-23805571	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183764145	chr22:23805616-23805617	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs563601516	chr22:23805633-23805634	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs529563023	chr22:23805657-23805658	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs149717526	chr22:23805668-23805669	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs145676445	chr22:23805683-23805684	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs528723753	chr22:23805684-23805685	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs551581407	chr22:23805708-23805709	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs564923460	chr22:23805713-23805714	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs5751674	chr22:23805714-23805715	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs189326375	chr22:23805777-23805778	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs181246466	chr22:23805798-23805799	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs567541348	chr22:23805800-23805801	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs73389494	chr22:23805806-23805807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73389495	chr22:23805820-23805821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs5751675	chr22:23805847-23805848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572944517	chr22:23805943-23805944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538876890	chr22:23805947-23805948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139746282	chr22:23805967-23805968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575008731	chr22:23805985-23805986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543775357	chr22:23805990-23805991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560523560	chr22:23806057-23806058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186484802	chr22:23806127-23806128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560392331	chr22:23806130-23806131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113873735	chr22:23806177-23806178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191735920	chr22:23806227-23806228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528630916	chr22:23806238-23806239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376946607	chr22:23806332-23806333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181597741	chr22:23806412-23806413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73389497	chr22:23806428-23806429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531050418	chr22:23806490-23806491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572043048	chr22:23806507-23806508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17615162	chr22:23806564-23806565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:214)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Li-fraumeni syndrome	18685109	CNVD
Breast cancer	20409316	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Cancer	19424424	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23792800-23812800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:23800400-23815200	Weak transcription	Primary B cells from cord blood	blood
3	chr22:23801600-23806800	Weak transcription	Ovary	ovary
4	chr22:23803000-23805600	Weak transcription	Fetal Intestine Large	intestine
5	chr22:23803000-23806000	Weak transcription	Fetal Intestine Small	intestine
6	chr22:23803200-23806800	Weak transcription	Thymus	Thymus
7	chr22:23804800-23806400	Weak transcription	Fetal Thymus	thymus
8	chr22:23805000-23805600	Strong transcription	Dnd41	blood
9	chr22:23805000-23805800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr22:23805600-23806000	Weak transcription	Dnd41	blood
11	chr22:23806000-23808600	Enhancers	Dnd41	blood
12	chr22:23806400-23807200	Enhancers	Fetal Thymus	thymus
13	chr22:23806800-23807000	Enhancers	Ovary	ovary
14	chr22:23806800-23807000	Enhancers	Thymus	Thymus
15	chr22:23807000-23808200	Weak transcription	Ovary	ovary
16	chr22:23807200-23808000	Weak transcription	Fetal Thymus	thymus
17	chr22:23808000-23808800	Enhancers	Fetal Thymus	thymus
18	chr22:23808800-23813000	Weak transcription	A549	lung
19	chr22:23809400-23810600	Enhancers	HepG2	liver
20	chr22:23812200-23812400	Enhancers	HepG2	liver
21	chr22:23812800-23813000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:23813000-23814400	Enhancers	HepG2	liver
23	chr22:23813200-23813400	Enhancers	A549	lung
24	chr22:23813400-23814000	Enhancers	Fetal Brain Male	brain
25	chr22:23813800-23814200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr22:23814000-23815600	Enhancers	Primary B cells from peripheral blood	blood
27	chr22:23814000-23815600	Weak transcription	Fetal Brain Male	brain
28	chr22:23814200-23815400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:23815200-23815400	Enhancers	Primary B cells from cord blood	blood
30	chr22:23815400-23817000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr22:23815600-23816400	Enhancers	Fetal Brain Male	brain
32	chr22:23816000-23816200	Enhancers	Brain Cingulate Gyrus	brain
33	chr22:23816000-23817200	Enhancers	Brain Germinal Matrix	brain
34	chr22:23816200-23817000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:23816200-23817000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:23816200-23817000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:23816200-23817000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr22:23819600-23821400	Enhancers	Dnd41	blood
39	chr22:23820400-23820600	Enhancers	Small Intestine	intestine
40	chr22:23820400-23820800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:23820400-23820800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr22:23820600-23821200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr22:23821400-23825200	Weak transcription	Dnd41	blood

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